Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating neurodegenerative disorder, characterized by almost identical brain changes, e.g., focal, bilaterally symmetric lesions, particularly in the basal ganglia, thalamus, and brainstem, but with considerable clinical and genetic heterogeneity. Clinically, Leigh syndrome is characterized by a wide variety of abnormalities, from severe neurologic problems to a near absence of abnormalities. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Some patients also present with peripheral nervous system involvement, including polyneuropathy or myopathy, or non-neurologic abnormalities, e.g., diabetes, short stature, hypertrichosis, cardiomyopathy, anemia, renal failure, vomiting, or diarrhea (Leigh-like syndrome). In the majority of cases, onset is in early childhood, but in a small number of cases, adults are affected. In the majority of cases, dysfunction of the respiratory chain (particularly complexes I, II, IV, or V), of coenzyme Q, or of the pyruvate dehydrogenase complex are responsible for the disease. Associated mutations affect genes of the mitochondrial or nuclear genome. Leigh syndrome and Leigh-like syndrome are the mitochondrial disorders with the largest genetic heterogeneity.
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PMID:Leigh and Leigh-like syndrome in children and adults. 1880 59

Beta-mannosidosis (OMIM 248510) is an inborn lysosomal storage disorder caused by deficiency of beta-mannosidase activity. This enzyme is encoded by a single gene (MANBA), located on chromosome 4q22-25. This autosomal recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly. The age of symptom onset is variable. We describe a 14-year clinical follow-up of a patient with beta-mannosidase deficiency with symptoms of mental retardation, progressive spasticity and cerebellar ataxia, a clinical spectrum that so far has never been reported in beta-mannosidosis. A novel mutation in the MANBA gene was found in our patient. Evoked potentials were in favour of a demyelinating pathology of the central nervous system. Serial MRI showed generalized cortical and subcortical atrophy in the absence of white matter changes suggesting an additional axonal pathophysiological component.
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PMID:Beta-mannosidosis: a new cause of spinocerebellar ataxia. 1898 Jul 95

We report three non-inbred patients with Val 107 transthyretin (TTR) amyloidosis. Clinical features were remarkable by the combination of peripheral polyneuropathy, carpal tunnel syndrome, cardiomyopathy, and epilepsy. Pathologic examination disclosed unusual striking systemic amyloid angiopathy in all studied tissues including nerve, muscle, gut, lung, salivary glands, and synovial membrane. It appears that the rare TTR Val 107 variant causes a peculiar familial amyloid syndrome characterized by both widespread systemic TTR amyloidosis and central nervous system deposition sufficient to cause seizures, pointing out the extent of TTR amyloidosis phenotypic heterogeneity.
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PMID:Marked systemic amyloid angiopathy in patients with val 107 transthyretin mutation. 1907 58

Over 60,000 Canadians are infected with human immunodeficiency virus (HIV). Greater than 50% of these individuals will develop a neurological disorder despite the availability of highly active antiretroviral therapy. HIV causes nervous system disease at all stages of infection with adverse effects on quality of life, adherence to medications, employment and survival. These disorders include opportunistic infections in addition to distinct HIV-associated neurological syndromes and undesirable treatment-related effects. The latter two groups of disorders are often undiagnosed and untreated in both adolescents and adults. Direct HIV infection of central nervous system causes HIV-associated dementia, which is a progressive subcortical dementia. HIV infection of the peripheral nervous system produces a painful sensory neuropathy termed distal sensory polyneuropathy, which may be exacerbated by several antiretroviral drugs. Other important HIV-induced neurological disorders include vacuolar myelopathy and an increased risk of seizures. Future issues that will confound the presentation and treatment of HIV-induced nervous system disorders include the increasing prevalence of drug-resistant HIV strains, increasing age of HIV-infected patients, hepatitis C virus co-infection and the Immune Reconstitution Inflammatory Syndrome. Herein, we review the clinical presentations, underlying pathogenesis and treatments of this burgeoning group of neurological disorders.
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PMID:NeuroAIDS: an evolving epidemic. 1953 27

Pregabalin is a new antiepileptic medication that works by binding to alpha 2 delta subunit of the voltage-dependent calcium channels present in presynaptic neurons. Its pharmacokinetic advantages include rapid and almost complete absorption, lack of protein binding, linear kinetics, absence of enzyme induction, and absence of interactions with other drugs. Pregabalin was found effective as adjunctive therapy for refractory partial-onset seizures, with up to 51% responder at a dose of 600 mg/day. The lowest effective dose was 150 mg/day. Pregabalin is also approved for treatment of painful diabetic polyneuropathy, postherpetic neuralgia and pain with fibromyalgia. Studies also suggest a beneficial effect on sleep and generalized anxiety disorders. Its main adverse effects in randomized adjunctive trials in adults have been mild to moderate. Most common side effects were dizziness, ataxia, somnolence and diplopia. Weight gain was not prominent in pivotal pregabalin trials, but was more problematic in long-term postmarketing analyses in epilepsy patients. Pregabalin, with its potent antiseizure effect, favorable pharmacokinetic profile, and effectiveness in common co-morbidities is an important addition to the treatment of epilepsy.
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PMID:Pregabalin in the management of partial epilepsy. 1972 20

Antiepileptic drugs were initially designed to treat epileptic seizures, but are increasingly used in the treatment of neuropathic pain. Efficacy of the newer antiepileptic drugs has been confirmed in placebo-controlled studies for trigeminal neuralgia, postherpetic neuralgia, painful polyneuropathy and central poststroke pain. While standard antiepileptic drugs act as sodium channel blockers, the newer antiepileptics display additional mechanisms of action, including a potentiation of GABAergic inhibition, specific binding on a subtype of calcium channels, a reduced release of glutamate and a blockade of AMPA/kainate receptors. These mechanisms could account for their antiallodynic and antihyperalgesic effects demonstrated in animal models of neuropathic pain and also suggested for gabapentin and lamotrigine in humans. Additional studies are required to compare efficacy of newer versus standard antiepileptic drugs and to better define their place in comparison with other analgesics in the treatment of neuropathic pain.
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PMID:Antiepileptic drugs in the treatment of neuropathic pain. 1981 Oct 32

Mitochondrial trifunctional protein (MTP) is a heterocomplex composed of 4 alpha-subunits containing LCEH (long-chain 2,3-enoyl-CoA hydratase) and LCHAD (long-chain 3-hydroxyacyl CoA dehydrogenase) activity, and 4 beta-subunits that harbor LCKT (long-chain 3-ketoacyl-CoA thiolase) activity. MTP deficiency is an autosomal recessive disorder that causes a clinical spectrum of diseases ranging from severe infantile cardiomyopathy to mild chronic progressive polyneuropathy. Here, we report the case of a Korean male newborn who presented with severe lactic acidosis, seizures, and heart failure. A newborn screening test and plasma acylcarnitine profile analysis by tandem mass spectrometry showed an increase of 3-hydroxy species: 3-OH-palmitoylcarnitine, 0.44 nmol/ml (reference range, RR <0.07); 3-OH-linoleylcarnitine, 0.31 nmol/ml (RR <0.06); and 3-OH-oleylcarnitine, 0.51 nmol/ml (RR <0.04). These findings suggested either long-chain 3-hydroxyacyl-coA dehydrogenase deficiency or complete MTP deficiency. By molecular analysis of the HADHB gene, the patient was found to be a compound heterozygote for c.358dupT (p.A120CfsX8) and c.1364T>G (p.V455G) mutations. These 2 mutations of the HADHB gene were novel and inherited. Although the patient was treated by reduction of glucose administration and supplementation of a medium-chain triglyceride-based diet with L-carnitine, he died 2 mo after birth due to advanced cardiac failure.
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PMID:Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. 1988 Jul 69

CSF phospho-tau (p-tau(181)) levels have shown good diagnostic utility in differential diagnosis of Alzheimer disease (AD). Unlike total-tau (t-tau), age related changes of this promising biomarker are sparsely studied. The aim of the study was to determine whether p-tau(181) is dependent on age, cognitive status or gender in patients with different neurological diseases who underwent diagnostic lumbar puncture and who had no clinical evidence of neurodegenerative diseases. CSF levels of p-tau(181) and total-tau (t-tau) of 46 neurologic patients (age range 22-89 years; 22 male, 24 female) were analyzed. Clinical diagnoses were cerebral ischaemia (n = 6), multiple sclerosis (n = 13), epileptic seizures (n = 3), polyneuropathy (n = 9) and other neurological diagnoses (n = 15). Cognitive performance was assessed by the German version of the CERAD battery. The mean level of p-tau(181) was in accordance with previous findings in neurological patients (42.8 +/- 15.3 pg/ml) and did not differ between neurological diseases. In contrast to t-tau (r = 0.38; P = 0.009), p-tau(181) did not correlate significantly to age (r = 0.15; P = 0.308). No influence of cognitive status or gender on p-tau(181) levels could be detected. The study corroborates the independence of p-tau(181) from age, cognitive status, gender and a wide spectrum of neurological diseases. The findings suggest that neither age related neurodegenerative processes nor ischaemic or inflammatory processes are accompanied by tau protein phosphorylation. In contrast, the data support the view that p-tau(181) seems to be a sign of the highly AD-specific pattern of tau phosphorylation during formation of neurofibrillary tangles.
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PMID:CSF phospho-tau is independent of age, cognitive status and gender of neurological patients. 1992 1

Renal diseases-related metabolic abnormalities cause diverse CNS disturbances, namely uremic encephalopathy, seizures, stroke, movement disorders, sleep alterations, and peripheral nervous system involvement comprising polyneuropathy, mononeuropathies, and myopathy. Some inherited and acquired renal diseases present with concomitant or precedent neurologic syndromes. Several mechanisms involved include toxic metabolic accumulation, hyperkalemia, hypercoagulability, immunologic disturbances, and tubular acido-basic disequilibrium. Clinical symptoms usually indicate severe renal dysfunction, but subtle abnormalities may occur. Judiciously tailored renal replacement therapy may avoid these complications, whereas others may emerge from these very therapies with overlapping clinical pictures. This makes an already complex management of renal patients even more difficult and asks for tight collaboration between nephrologists and neurologists.
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PMID:Neurologic presentations of renal diseases. 1993 75

Ten out of 20 children, treated with usual doses of vincristine for various types of childhood cancers, developed neurotoxicity during treatment. Peripheral neurotoxicity (mixed motor-sensory 4/10, pure motor 3/10, pure sensory 3/10) was seen in the form of weakness of lower limbs, areflexia, neuropathic pain, or sensory loss. Autonomic neuropathy presented as constipation and urinary retention in 2 children, while 2 children developed encephalopathy in form of seizures, confusion, aphasia, and transient blindness. In children with severe neuropathy, vincristine administration was withheld/dose reduced till clinical improvement started, which took about 2-3 weeks time. Nerve conduction velocity showed motor-sensory axonal polyneuropathy. Electrophysiological abnormalities were found to persist even six months after clinical recovery in children with neurotoxicity. We found a relatively higher incidence of vincristine induced neuropathy in Indian children, which was probably due to coexistence of severe malnutrition in them.
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PMID:Vincristine induced neurotoxicity in cancer patients. 1993 61


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